Incidental Mutation 'IGL02812:Comp'
ID 360620
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Comp
Ensembl Gene ENSMUSG00000031849
Gene Name cartilage oligomeric matrix protein
Synonyms TSP5, thrombospondin-5
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.291) question?
Stock # IGL02812
Quality Score
Status
Chromosome 8
Chromosomal Location 70826208-70834716 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 70829337 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Serine at position 305 (G305S)
Ref Sequence ENSEMBL: ENSMUSP00000003659 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003659]
AlphaFold Q9R0G6
PDB Structure Storage function of COMP:the crystal structure of the coiled-coil domain in complex with vitamin D3 [X-RAY DIFFRACTION]
COMPcc in complex with fatty acids [X-RAY DIFFRACTION]
COMPcc in complex with fatty acids [X-RAY DIFFRACTION]
COMPcc in complex with fatty acids [X-RAY DIFFRACTION]
COMPcc in complex with fatty acids [X-RAY DIFFRACTION]
Predicted Effect possibly damaging
Transcript: ENSMUST00000003659
AA Change: G305S

PolyPhen 2 Score 0.747 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000003659
Gene: ENSMUSG00000031849
AA Change: G305S

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:COMP 28 72 6.2e-22 PFAM
EGF 88 124 8.19e-2 SMART
EGF_CA 125 177 5.08e-7 SMART
EGF_CA 178 220 1.73e-9 SMART
EGF 226 265 7.53e-1 SMART
Pfam:TSP_3 299 334 6.1e-16 PFAM
Pfam:TSP_3 358 393 1.2e-15 PFAM
Pfam:TSP_3 393 416 2.7e-6 PFAM
Pfam:TSP_3 417 454 1.6e-14 PFAM
Pfam:TSP_3 455 490 3.7e-14 PFAM
Pfam:TSP_3 491 526 6.1e-15 PFAM
Pfam:TSP_C 544 741 2.6e-101 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212439
Predicted Effect probably benign
Transcript: ENSMUST00000212488
Predicted Effect probably benign
Transcript: ENSMUST00000213072
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a noncollagenous extracellular matrix (ECM) protein. It consists of five identical glycoprotein subunits, each with EGF-like and calcium-binding (thrombospondin-like) domains. Oligomerization results from formation of a five-stranded coiled coil and disulfides. Binding to other ECM proteins such as collagen appears to depend on divalent cations. Contraction or expansion of a 5 aa aspartate repeat and other mutations can cause pseudochondroplasia (PSACH) and multiple epiphyseal dysplasia (MED). [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for a targeted null mutation are indistinguishable from controls. Mice homozygous for a knockin allele with two point mutations exhibit short limb dwarfism, osteoarthritis, abnormal chondrocytes, mild myopathy, and abnormal tendon morphology and stiffness. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 G T 10: 79,841,881 (GRCm39) V1005L possibly damaging Het
Abcc9 A G 6: 142,643,516 (GRCm39) S11P possibly damaging Het
Acsl1 A T 8: 46,945,873 (GRCm39) E2V possibly damaging Het
Aox3 G A 1: 58,205,055 (GRCm39) V757I probably benign Het
Aqp4 T C 18: 15,530,632 (GRCm39) probably null Het
Arhgef7 A G 8: 11,831,245 (GRCm39) probably benign Het
Armc9 T A 1: 86,172,293 (GRCm39) D2E probably damaging Het
Celsr2 G A 3: 108,321,429 (GRCm39) P461L probably benign Het
Cep170 T C 1: 176,570,080 (GRCm39) D1339G probably damaging Het
Clk1 T A 1: 58,453,635 (GRCm39) N317I probably damaging Het
Depdc5 G A 5: 33,050,712 (GRCm39) probably benign Het
Dse T C 10: 34,059,712 (GRCm39) E131G probably damaging Het
Ecpas T A 4: 58,864,343 (GRCm39) probably benign Het
Emilin3 G A 2: 160,750,649 (GRCm39) Q320* probably null Het
Epha2 A G 4: 141,046,230 (GRCm39) probably benign Het
Fam243 A G 16: 92,117,616 (GRCm39) I224T probably damaging Het
Fmnl1 A G 11: 103,087,592 (GRCm39) probably benign Het
Gbp9 T C 5: 105,231,624 (GRCm39) N321D probably damaging Het
Gm5884 A G 6: 128,622,738 (GRCm39) noncoding transcript Het
Gp2 A T 7: 119,051,452 (GRCm39) N254K probably benign Het
Hgh1 T A 15: 76,253,754 (GRCm39) probably null Het
Inpp5f A G 7: 128,284,030 (GRCm39) N543S probably damaging Het
Ints7 T C 1: 191,351,853 (GRCm39) V854A probably damaging Het
Itgb1bp1 T G 12: 21,320,879 (GRCm39) probably benign Het
Lrrtm4 A T 6: 79,998,947 (GRCm39) N120Y probably damaging Het
Map3k5 T C 10: 19,900,782 (GRCm39) S319P probably damaging Het
Mc4r A G 18: 66,992,318 (GRCm39) L265S probably damaging Het
Morc1 T C 16: 48,378,869 (GRCm39) probably benign Het
Mre11a T A 9: 14,701,966 (GRCm39) probably null Het
Msh4 T C 3: 153,607,037 (GRCm39) probably benign Het
Mterf4 A G 1: 93,232,455 (GRCm39) L132P probably damaging Het
Myo15a A T 11: 60,368,005 (GRCm39) E255V probably benign Het
Myot T C 18: 44,479,127 (GRCm39) V288A probably damaging Het
Nipa2 T C 7: 55,592,766 (GRCm39) Y53C probably damaging Het
Npas1 T A 7: 16,190,041 (GRCm39) I502F probably damaging Het
Or12j5 C T 7: 140,083,533 (GRCm39) V280M probably damaging Het
Or2y1d T A 11: 49,321,749 (GRCm39) W149R probably damaging Het
Osbp2 A G 11: 3,664,637 (GRCm39) V565A probably benign Het
Otof A G 5: 30,531,426 (GRCm39) S1666P probably benign Het
Per3 A C 4: 151,108,927 (GRCm39) S476A probably damaging Het
Pja2 T C 17: 64,604,789 (GRCm39) N465D probably damaging Het
Pla2g4c T C 7: 13,082,290 (GRCm39) F512S probably damaging Het
Plcd4 T A 1: 74,596,967 (GRCm39) L403Q probably damaging Het
Psg26 T C 7: 18,209,080 (GRCm39) T443A probably benign Het
Snapc4 T A 2: 26,259,384 (GRCm39) T589S probably benign Het
Spag8 G A 4: 43,651,755 (GRCm39) R404W probably damaging Het
Tdrd7 A G 4: 45,994,406 (GRCm39) D268G probably benign Het
Tfap2d A G 1: 19,213,151 (GRCm39) H325R possibly damaging Het
Vmn1r59 C T 7: 5,457,176 (GRCm39) V195I probably damaging Het
Vmn1r67 G A 7: 10,180,945 (GRCm39) E70K probably benign Het
Wdr18 T A 10: 79,796,898 (GRCm39) N91K possibly damaging Het
Zbtb7b T C 3: 89,287,081 (GRCm39) T463A probably damaging Het
Other mutations in Comp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01596:Comp APN 8 70,831,285 (GRCm39) missense probably damaging 1.00
IGL02110:Comp APN 8 70,826,289 (GRCm39) missense probably benign 0.08
IGL02721:Comp APN 8 70,828,731 (GRCm39) missense probably damaging 1.00
IGL03023:Comp APN 8 70,831,260 (GRCm39) unclassified probably benign
BB007:Comp UTSW 8 70,826,503 (GRCm39) missense probably damaging 1.00
BB017:Comp UTSW 8 70,826,503 (GRCm39) missense probably damaging 1.00
IGL03047:Comp UTSW 8 70,827,559 (GRCm39) missense possibly damaging 0.65
R0217:Comp UTSW 8 70,831,558 (GRCm39) missense probably damaging 1.00
R0503:Comp UTSW 8 70,828,384 (GRCm39) missense possibly damaging 0.58
R0659:Comp UTSW 8 70,831,751 (GRCm39) missense possibly damaging 0.84
R1490:Comp UTSW 8 70,826,563 (GRCm39) missense possibly damaging 0.63
R1663:Comp UTSW 8 70,826,250 (GRCm39) missense possibly damaging 0.93
R1666:Comp UTSW 8 70,831,607 (GRCm39) splice site probably null
R1668:Comp UTSW 8 70,831,607 (GRCm39) splice site probably null
R1789:Comp UTSW 8 70,829,796 (GRCm39) missense probably benign 0.01
R2096:Comp UTSW 8 70,828,713 (GRCm39) missense probably damaging 1.00
R2157:Comp UTSW 8 70,832,220 (GRCm39) nonsense probably null
R3836:Comp UTSW 8 70,826,509 (GRCm39) missense probably benign 0.26
R4630:Comp UTSW 8 70,827,032 (GRCm39) missense possibly damaging 0.94
R4743:Comp UTSW 8 70,828,711 (GRCm39) missense probably damaging 1.00
R4747:Comp UTSW 8 70,829,352 (GRCm39) missense probably damaging 1.00
R5028:Comp UTSW 8 70,829,290 (GRCm39) missense probably damaging 0.99
R5070:Comp UTSW 8 70,829,145 (GRCm39) missense probably benign 0.25
R5083:Comp UTSW 8 70,833,950 (GRCm39) missense probably damaging 1.00
R5917:Comp UTSW 8 70,829,011 (GRCm39) splice site probably null
R6705:Comp UTSW 8 70,829,387 (GRCm39) missense probably damaging 0.98
R6965:Comp UTSW 8 70,829,164 (GRCm39) missense probably damaging 1.00
R7309:Comp UTSW 8 70,826,328 (GRCm39) splice site probably null
R7402:Comp UTSW 8 70,829,854 (GRCm39) missense probably benign 0.01
R7501:Comp UTSW 8 70,832,059 (GRCm39) missense possibly damaging 0.82
R7541:Comp UTSW 8 70,834,000 (GRCm39) missense probably damaging 1.00
R7568:Comp UTSW 8 70,826,509 (GRCm39) missense probably benign 0.26
R7930:Comp UTSW 8 70,826,503 (GRCm39) missense probably damaging 1.00
R8103:Comp UTSW 8 70,833,936 (GRCm39) missense probably damaging 1.00
R8259:Comp UTSW 8 70,831,704 (GRCm39) missense probably damaging 1.00
R8271:Comp UTSW 8 70,829,110 (GRCm39) missense probably damaging 1.00
R8677:Comp UTSW 8 70,832,910 (GRCm39) missense probably damaging 1.00
R9273:Comp UTSW 8 70,831,285 (GRCm39) missense probably damaging 1.00
R9355:Comp UTSW 8 70,828,699 (GRCm39) missense probably benign 0.30
R9557:Comp UTSW 8 70,829,854 (GRCm39) missense probably benign 0.01
Z1177:Comp UTSW 8 70,829,871 (GRCm39) missense probably benign 0.06
Posted On 2015-12-18